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01-11-2006 | Original Paper

Growth hormone deficiency in a patient with lysinuric protein intolerance

Authors: Valentina Esposito, Teresa Lettiero, Simona Fecarotta, Gianfranco Sebastio, Giancarlo Parenti, Mariacarolina Salerno

Published in: European Journal of Pediatrics | Issue 11/2006

Abstract

Introduction

Lysinuric protein intolerance (LPI; MIM 222700) is a rare, autosomal recessive metabolic disorder caused by mutations in the SLC7A7 gene, which encodes the light chain of the cationic amino acids (CAA) transporter y+. The clinical presentation of LPI includes gastrointestinal symptoms, failure to thrive, episodes of coma, hepatosplenomegaly and osteporosis. However, other findings have also been reported, and these suggest a multisystem involvement.

Discussion

We report a girl with confirmed LPI who presented with severe short stature that was unresponsive to adequate LPI treatment. The girl was found to have a classic growth hormone deficiency (GHD) and responded well to growth hormone (GH) replacement therapy.

Conclusion

While it is not known whether the mechanisms involved in the GHD of our patient are related to LPI, this case suggests that GH/IGF-I axis should be investigated in LPI children with persistent growth failure.

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Title: Growth hormone deficiency in a patient with lysinuric protein intolerance
Authors: Valentina Esposito
Teresa Lettiero
Simona Fecarotta
Gianfranco Sebastio
Giancarlo Parenti
Mariacarolina Salerno
Publication date: 01-11-2006
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue 11/2006
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-006-0170-8

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Growth hormone deficiency in a patient with lysinuric protein intolerance

Abstract

Introduction

Discussion

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Introduction

Discussion

Conclusion

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